A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5374871



Internal ID8466606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:221860409..221861978hg38UCSC Ensembl
Outerchr1:222033751..222035320hg19UCSC Ensembl
Outerchr1:220100374..220101943hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381570
hg191570
hg181570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2520781
Supporting Variants
SamplesNA18507
Known Genes
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5374871
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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